ALX3

Predicted protein structure

Clinical relevance (Genomics England PanelApp)

Diagnostic Grade (Green)

• DDG2P

  BIALLELIC, autosomal or pseudoautosomal

• Fetal anomalies

  BIALLELIC, autosomal or pseudoautosomal

• Skeletal dysplasia

  BIALLELIC, autosomal or pseudoautosomal

• Clefting

  BIALLELIC, autosomal or pseudoautosomal

• Intellectual disability

  BIALLELIC, autosomal or pseudoautosomal

• Limb disorders

• Primary lymphoedema

  BIALLELIC, autosomal or pseudoautosomal

• Rare syndromic craniosynostosis or isolated multisuture synostosis

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Disease associations (Open Targets)

• frontorhiny

  0.78

• frontonasal dysplasia

  0.42

• Abnormality of the skeletal system

  0.40

• open-angle glaucoma

  0.35

• humerus fracture

  0.28

• liver disorder

  0.27

• hereditary disease

  0.19

• glaucoma

  0.15

• MODY

  0.09

• diabetes mellitus

  0.07

Score is the Open Targets composite evidence score (0-1). Higher = stronger gene-disease association.

Protein function (UniProt)